Affiliation: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil ; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil.

ABSTRACTBackground/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from -1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.

fig2: LH levels measured by electrochemiluminescence at different ages in patients with partial gonadal dysgenesis. FSH values are presented on the y-axis on a logarithmic scale. Dotted lines on the y-axis represent the upper and lower normal limits for LH levels in pubertal boys (1.7–8.6 IU/L).

Mentions:
Results of measurements of gonadotropins (FSH and LH) and testosterone during follow-up were also analyzed. Data on the measurement of gonadotropins at the end of the prepubertal period, between ten and 12 years, were available for six patients (cases 2, 4, 6, 7, 8, and 10). FSH levels were in the upper limit of the normal male pubertal range or higher in 3/6 patients (cases 2, 6, and 7), while LH levels were normal in all cases (Figures 1 and 2).

fig2: LH levels measured by electrochemiluminescence at different ages in patients with partial gonadal dysgenesis. FSH values are presented on the y-axis on a logarithmic scale. Dotted lines on the y-axis represent the upper and lower normal limits for LH levels in pubertal boys (1.7–8.6 IU/L).

Mentions:
Results of measurements of gonadotropins (FSH and LH) and testosterone during follow-up were also analyzed. Data on the measurement of gonadotropins at the end of the prepubertal period, between ten and 12 years, were available for six patients (cases 2, 4, 6, 7, 8, and 10). FSH levels were in the upper limit of the normal male pubertal range or higher in 3/6 patients (cases 2, 6, and 7), while LH levels were normal in all cases (Figures 1 and 2).

Affiliation:
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil ; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil.

ABSTRACTBackground/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from -1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.